N17N (p.Asn17Asn) variant of DOCK8 (Q8NF50)
N17N (p.Asn17Asn) in DOCK8 (Q8NF50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
N17N (p.Asn17Asn) variant details
- p.Asn17Asn
- gnomAD 9-215027-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.524
- MetaLR 0.06
- MetaSVM -1.01
- CADD 25.50
- PolyPhen-2 1.00
- MutPred 0.24
- Population evidence available
- Structural context available
- Literature evidence available